Upload & Analyse – without a Bioinformatician!
All you need is a browser.
A cloud-based platform for analyzing and organizing genomic data. It detects germline and somatic variants, classifies pathogenicity according to ACMG guidelines, and automatically generates clinical reports. Offers preset configurations and filtering options for clinicians, and is compliant with various regulations and standards.
Upload & Analyse – without a Bioinformatician!
All you need is a browser.
A cloud-based platform for analyzing and organizing genomic data. It detects germline and somatic variants, classifies pathogenicity according to ACMG guidelines, and automatically generates clinical reports. Offers preset configurations and filtering options for clinicians, and is compliant with various regulations and standards.
Detects the Copy Number Variants
Detects Germline and Somatic Variants from FASTQ, BAM, and VCF Files
Gives the Statistical Information Per Sample
Automatically Classifies the Pathogenicity of Variants According to ACMG Guideline
Detects de novo Variants with Family Trio Analyses
Automatically Generate Clinical Reports with Massive Analyser Reporting System
ADVANTAGES
Built-in IGV
Access IGV by clicking on a variant in the CNV table!
Customizable Features
Customize your own variant and statistics table and apply filters of your choice from the advanced settings menu! You can also customize pathogenicity and rules columns and many more…
Detailed Charts & Graphs
Even for Advanced CNV and Trio Analyses!
Not Just from FASTQ
You can upload BAM and VCF as input too! (VCF should be uploaded in our format)
Pipelines
Exome
Trio
Advance CNV Detector
Nanopore
Our platform currently contains 8 different pipelines which 4 of them are the main pipelines (Exome, Trio, Advance CNV Detector, Nanopore). The exome pipeline has 3 sub-pipelines that have different starting points and each of the sub-pipelines have two options as somatic or germline. The number of pipelines will be increased over time to fulfill the arising clinical needs.
SAMPLE FIGURES
Main Statistics
This page includes basic statistics of the aligned data such as globals, coverage, GC-content, gene-based coverage, mapping quality, mismatches and indels, insert size, zygosity ratio, tumor mutational burden, Ts-Tv ratio.
CNV Table & Plots
The scattered plot visualizes the base 2 logarithm of copy ratio via chromosomes. Bands below a certain threshold below zero mean loss, while bands above a threshold value above zero mean gain. Dots denote trustability of detected CNV. If dot density is high and dot diameters large, reability of the result is also acceptable. To be sure for about reliability of results, please check the CNV weight and log2 value from CNV table.
CNV Diagram
The diagram shows chromosome based copy number variants. While dark blue denotes loss, dark red denotes gain.
CNV Plot
Statistical Graphs
TECH SPECS
Upload NGS output directly to our platform without the need for any manipulation.
ISO/IEC 27001:2013, ISO9001:2015, ISO 14001:2015, ISO 45001:2018, ISO13485
GDPR and KVKK compliance
Technical support
Suitable for patient analysis and report
FASTQ, BAM and VCF files are accepted as input. (VCF files should be in our format)
Variant fraction (as Genomic Fraction Coverage), zygosity status and more statistics are given.
CES and WES data analysis and review includes phenotype specific variant filter.
Analysis done according to ACMG variant classification criteria. (The exome and trio analyses provide, 19 and 20 of the proofs automatically to determine the pathogenicity class of variants.)
CES and WES data analysis and review includes phenotype specific variant filter.
ExAC / ESP / 1000 Genomes /Gnomad are used for the population analysis of the variant.
Graph and charts are given for the following; (and more)
- zygosity
- chromosomal position
- effects on the transcript
- automatic pathogenicity calculation
- sequence onthology information (frameshift, missense etc.)
- dbSNP number
- Clinvar records
- Gene symbol and gene symbol related links
Contact us now!
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Expert Consultancy
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Customized Services
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